Early onset Charcot-Marie-Tooth disease caused by a homozygous Leu239Phe mutation in the GDAP1 gene

Acta Myologica

Volumn 25, Issue 1, 2006, Pages 34-37

  Kabzinska, D ^a   Drac, H ^a,b   Rowinska Marcinska, K ^a,b   Fidzianska, A ^a   Kochanski, Andrzej ^a   Hausmanowa Petrusewicz, I ^a  

^a MOSSAKOWSKI MEDICAL RESEARCH CENTRE   (Poland)

^b MEDICAL UNIVERSITY OF WARSAW   (Poland)

Author keywords

CMT4A disease; Focally folded myelin; GDAP1 gene mutations

Indexed keywords

GLYCOPROTEIN; PROTEIN GDAP1; UNCLASSIFIED DRUG;

ACHILLES REFLEX; ADULT; ANAMNESIS; ARTICLE; CASE REPORT; DEMYELINATING DISEASE; ELECTROMYOGRAM; ELECTRON MICROSCOPY; ELECTROSTIMULATION; FEMALE; GENE MUTATION; HAND MOVEMENT; HEREDITARY MOTOR SENSORY NEUROPATHY; HOMOZYGOSITY; HUMAN; MEDIAN NERVE; MEDICAL INSTRUMENTATION; MUSCLE ATROPHY; MUSCLE REINNERVATION; MUSCLE WEAKNESS; NERVE BIOPSY; NEUROLOGIC EXAMINATION; PARAPLEGIA; PES EQUINOVARUS; PHYSICAL EXAMINATION; SURAL NERVE;

ADULT; AGE OF ONSET; CHARCOT-MARIE-TOOTH DISEASE; CHILD, PRESCHOOL; FEMALE; HUMANS; NERVE TISSUE PROTEINS;

EID: 33747513173     PISSN: 11282460     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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